A case report of a rare intramuscular granular cell tumor

Background: Granular cell tumors (GCTs) were firstly described by Weber in 1854 and 70 years later by Abrikossoff and classified as benign tumors. Originally considered muscle tumors, they have been identified as neural lesions, due to their close association with nerve and to their immunohystochemical characteristics. GCTs are uncommon tumors and they may arise in any part of the body; they have been mainly observed in tongue, chest wall and upper extremities; less frequent sites are larynx, gastrointestinal tract, breast, pituitary stalk and the female anogenital region. Here we report a case of GCT showing an uncommon localization such as the upper third of the right rectus muscle of the abdominal wall. Case presentation: A 45 year-old woman of Caucasian origin presented to the surgeon with a 6-month history of light pain in the upper third of the abdominal wall. Radiological exams (Ultrasonography, Computed Tomography and Contrast magnetic resonance imaging) showed a localized in the right rectus abdominis muscle. After excision, histological and immunohystochemical analysis, with the support of electron microscopy, allowed making diagnosis of granular cell tumor. Discussion: After fist description by Abrikosoff in 1926 of GCT like mesenchymal tumor of unknown origin, in recent years immunohystochemical techniques definitely demonstrated the histogenetic derivation of GCT from Schwann cells. Granular cell tumors are rare, small, slow-growing, solitary and painless subcutaneous nodules which behave in a benign fashion, but can have a tendency to recur; in rare cases they can metastasize, when they became malignant; there are some clinical and histological criteria to suspect the malignance of this tumor. Conclusion: It is important that clinicians, radiologists and pathologists are aware of the clinical presentation and histopathology of GCT for appropriate management, counselling and follow-up. In our case we had a complete radiological, morphological and immunohystochemical characterization of the lesion and a definitive diagnosis of benignity confirmed by electron microscopy

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice

Neuropsychological profile of mild temporal lobe epilepsy

Objective: In the current literature, whether patients with mild mesial temporal lobe epilepsy (mMTLE) have typical neurocognitive profile similar to patients with treatment-refractory seizures still remains unknown. The purpose of the present work was to analyze the neuropsychological profile in a group of consecutive patients with mMTLE. Methods: Forty consecutive patients whose conditions were diagnosed with mMTLE and 30 healthy controls (HC) were evaluated with an extensive neuropsychological battery. In addition, self-report questionnaires were also administered to evaluate the subjective impairments in prospective and retrospective memories. Finally, the levels of depression and anxiety were evaluated using the Beck Depression Inventory II (BDI-II) and the State\u2013Trait Anxiety Inventory \u2014 Form Y1 (STAI-YI e 2). Results: Patients with mMTLE patients showed higher BDI-II scores (15.9 \ub1 13.9 vs 7.2 \ub1 6.7; p =, 002), and higher STAI-Y1 (41.2 \ub1 14.6 vs 32.6 \ub1 9.8; p =, 005) together with both objective and subjective memory deficits. Although BDI-II and STAI scores strongly correlated to the outcome in Rey Auditory Verbal Learning Test (RAVLT) and prospective and retrospective memory questionnaire (PRMQ) (p < 0.0021), these results did not change without depression scores. Conclusion: We showed that a specific neurocognitive profile in patients with mMTLE exists. The neuropsychological features are mood depression, verbal memory immediate and delayed deficits, and subjective prospective and retrospective memory deficits

Gi Protein Modulation of the Potassium Channel TASK-2 Mediates Vesicle Osmotic Swelling to Facilitate the Fusion of Aquaporin-2 Water Channel Containing Vesicles

Vesicle fusion is a fundamental cell biological process similar from yeasts to humans. For secretory vesicles, swelling is considered a step required for the expulsion of intravesicular content. Here this concept is revisited providing evidence that it may instead represent a general mechanism. We report the first example that non-secretory vesicles, committed to insert the Aquaporin-2 water channel into the plasma membrane, swell and this phenomenon is required for fusion to plasma membrane. Through an interdisciplinary approach, using atomic force microscope (AFM), a fluorescence-based assay of vesicle volume changes and NMR spectroscopy to measure water self-diffusion coefficient, we provide evidence that Gi protein modulation of potassium channel TASK-2 localized in AQP2 vesicles, is required for vesicle swelling. Estimated intravesicular K⁺ concentration in AQP2 vesicles, as measured by inductively coupled plasma mass spectrometry, was 5.3 mM, demonstrating the existence of an inwardly K⁺ chemical gradient likely generating an osmotic gradient causing vesicle swelling upon TASK-2 gating. Of note, abrogation of K⁺ gradient significantly impaired fusion between vesicles and plasma membrane. We conclude that vesicle swelling is a potentially important prerequisite for vesicle fusion to the plasma membrane and may be required also for other non-secretory vesicles, depicting a general mechanism for vesicle fusion

Psychiatric Assessment in Patients with Mild Temporal Lobe Epilepsy

Objectives. The findings of previous studies focused on personality disorders in epileptic patients are difficult to interpret due to nonhomogeneous samples and noncomparable methods. Here, we aimed at studying the personality profile in patients with mild temporal lobe epilepsy (mTLE) with psychiatric comorbidity. Materials and Methods. Thirty-five patients with mTLE (22 males, mean age 40.7±12.1) underwent awake and sleep EEG, 3T brain MRI, and an extensive standardized diagnostic neuropsychiatric battery: Temperament and Character Inventory-Revised (TCI-R), Beck Depression Inventory-2, and State-Trait Anxiety Inventory. Drug history was collected in detail. Hierarchical Cluster Analysis was performed on TCI-R data, while all other clinical and psychological variables were compared across the resulting clusters. Results. Scores of Harm Avoidance (HA), Reward Dependence (RD), Persistence (P), Cooperativeness (C), and Self-Transcendence (ST) allowed the identification of two clusters, describing different personality subtypes. Cluster 1 was characterized by an early onset, more severe anxiety traits, and combined drug therapy (antiepileptic drug and Benzodiazepine/Selective Serotonin Reuptake Inhibitors) compared to Cluster 2. Conclusions. Our findings suggest that different personality traits may play a role in determining the clinical outcome in patients with mTLE. Specifically, lower scores of HA, RD, P, C, and ST were associated with worse clinical outcome. Thus, personality assessment could serve as an early indicator of greater disease severity, improving the management of mTLE

Adolescents with Neuropsychiatric Disorders during the COVID-19 Pandemic: Focus on Emotional Well-Being and Parental Stress

(1) Introduction: The aim of our research was to explore emotional/behavioral changes in adolescents with neuropsychiatric conditions during the COVID-19 pandemic, and parental stress levels through a standardized assessment, comparing the data collected before and during the first months of lockdown. Moreover, an additional goal was to detect a possible relationship between emotional/behavioural symptoms of adolescents and the stress levels of their parents. (2) Methods: We enrolled 178 Italian adolescents aged between 12-18 that were referred to the Child Neuropsychiatry Unit of the University Hospital of Salerno with different neuropsychiatric diagnoses. Two standardized questionnaires were provided to all parents for the assessment of parental stress (PSI-Parenting Stress Index-Short Form) and the emotional/behavioral problems of their children (Child Behaviour Check List). The data collected from questionnaires administered during the six months preceding the pandemic, as is our usual clinical practice, were compared to those recorded during the pandemic. (3) Results: The statistical comparison of PSI and CBCL scores before/during the pandemic showed a statistically significant increase in all subscales in the total sample. The correlation analysis highlighted a significant positive relationship between Parental Stress and Internalizing/Externalizing symptoms of adolescent patients. Age and gender did not significantly affect CBCL and PSI scores, while the type of diagnosis could affect behavioral symptoms and parental stress. (4) Conclusions: our study suggests that the lockdown and the containment measures adopted during the COVID-19 pandemic could have aggravated the emotional/behavioral symptoms of adolescents with neuropsychiatric disorders and the stress of their parents. Further studies should be conducted in order to monitor the evolution of these aspects over time

Adolescents with Neuropsychiatric Disorders during the COVID-19 Pandemic: Focus on Emotional Well-Being and Parental Stress

Introduction: The aim of our research was to explore emotional/behavioral changes in adolescents with neuropsychiatric conditions during the COVID-19 pandemic, and parental stress levels through a standardized assessment, comparing the data collected before and during the first months of lockdown. Moreover, an additional goal was to detect a possible relationship between emotional/behavioural symptoms of adolescents and the stress levels of their parents. (2) Methods: We enrolled 178 Italian adolescents aged between 12-18 that were referred to the Child Neuropsychiatry Unit of the University Hospital of Salerno with different neuropsychiatric diagnoses. Two standardized questionnaires were provided to all parents for the assessment of parental stress (PSI-Parenting Stress Index-Short Form) and the emotional/behavioral problems of their children (Child Behaviour Check List). The data collected from questionnaires administered during the six months preceding the pandemic, as is our usual clinical practice, were compared to those recorded during the pandemic. (3) Results: The statistical comparison of PSI and CBCL scores before/during the pandemic showed a statistically significant increase in all subscales in the total sample. The correlation analysis highlighted a significant positive relationship between Parental Stress and Internalizing/Externalizing symptoms of adolescent patients. Age and gender did not significantly affect CBCL and PSI scores, while the type of diagnosis could affect behavioral symptoms and parental stress. (4) Conclusions: our study suggests that the lockdown and the containment measures adopted during the COVID-19 pandemic could have aggravated the emotional/behavioral symptoms of adolescents with neuropsychiatric disorders and the stress of their parents. Further studies should be conducted in order to monitor the evolution of these aspects over time

Validation Study of Italian Version of Inventory for Déjà Vu Experiences Assessment (I-IDEA): A Screening Tool to Detect Déjà Vu Phenomenon in Italian Healthy Individuals

The Inventory Déjà Vu Experiences Assessment (IDEA) is the only screening instrument proposed to evaluate the Déjà vu (DV) experience. Here, we intended to validate the Italian version of IDEA (I-IDEA) and at the same time to investigate the incidence and subjective qualities of the DV phenomenon in healthy Italian adult individuals on basis of an Italian multicentre observational study. In this study, we report normative data on the I-IDEA, collected on a sample of 542 Italian healthy subjects aging between 18-70 years (average age: 40) with a formal educational from 1-19 years. From September 2013 to March 2016, we recruited 542 healthy volunteers from 10 outpatient neurological clinics in Italy. All participants (i.e., family members of neurological patients enrolled, medical students, physicians) had no neurological or psychiatric illness and gave their informed consent to participate in the study. All subjects enrolled self-administered the questionnaire and they were able to complete I-IDEA test without any support. In total, 396 (73%) of the 542 healthy controls experienced the DV phenomenon. The frequency of DV was inversely related to age as well as to derealisation, jamais vu, precognitive dreams, depersonalization, paranormal activity, remembering dreams, travel frequency, and daydreams (all p < 0.012). The Italian version of IDEA maintains good properties, thus confirming that this instrument is reliable for detecting and characterising the DV phenomenon